ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala)

gnomAD frequency: 0.00001  dbSNP: rs1216965153
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320472 SCV001511260 uncertain significance Congenital myasthenic syndrome 4A 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 335 of the CHRNE protein (p.Thr335Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1020826). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002543799 SCV003573741 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.1003A>G (p.T335A) alteration is located in exon 9 (coding exon 9) of the CHRNE gene. This alteration results from a A to G substitution at nucleotide position 1003, causing the threonine (T) at amino acid position 335 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830340 SCV002093401 uncertain significance Congenital myasthenic syndrome 2020-02-13 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.